CA3014292A1 - Methods and systems for detection of abnormal karyotypes - Google Patents

Methods and systems for detection of abnormal karyotypes Download PDF

Info

Publication number
CA3014292A1
CA3014292A1 CA3014292A CA3014292A CA3014292A1 CA 3014292 A1 CA3014292 A1 CA 3014292A1 CA 3014292 A CA3014292 A CA 3014292A CA 3014292 A CA3014292 A CA 3014292A CA 3014292 A1 CA3014292 A1 CA 3014292A1
Authority
CA
Canada
Prior art keywords
chromosome
determining
read coverage
localhetab
genomic regions
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Abandoned
Application number
CA3014292A
Other languages
English (en)
French (fr)
Inventor
Evan MAXWELL
Lukas HABEGGER
Jeffrey Reid
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Regeneron Pharmaceuticals Inc
Original Assignee
Regeneron Pharmaceuticals Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Regeneron Pharmaceuticals Inc filed Critical Regeneron Pharmaceuticals Inc
Publication of CA3014292A1 publication Critical patent/CA3014292A1/en
Abandoned legal-status Critical Current

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medical Informatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Data Mining & Analysis (AREA)
  • Organic Chemistry (AREA)
  • Public Health (AREA)
  • Evolutionary Computation (AREA)
  • Epidemiology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Cell Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
CA3014292A 2016-02-12 2017-02-13 Methods and systems for detection of abnormal karyotypes Abandoned CA3014292A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201662294669P 2016-02-12 2016-02-12
US62/294,669 2016-02-12
PCT/US2017/017734 WO2017139801A1 (en) 2016-02-12 2017-02-13 Methods and systems for detection of abnormal karyotypes

Publications (1)

Publication Number Publication Date
CA3014292A1 true CA3014292A1 (en) 2017-08-17

Family

ID=58185625

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3014292A Abandoned CA3014292A1 (en) 2016-02-12 2017-02-13 Methods and systems for detection of abnormal karyotypes

Country Status (12)

Country Link
US (2) US12071669B2 (es)
EP (1) EP3414691A1 (es)
JP (2) JP6765433B2 (es)
KR (2) KR102341129B1 (es)
CN (2) CN109074426B (es)
AU (2) AU2017218149B2 (es)
CA (1) CA3014292A1 (es)
HK (1) HK1259478A1 (es)
IL (2) IL261216B (es)
MX (1) MX2018009823A (es)
SG (1) SG11201806812SA (es)
WO (1) WO2017139801A1 (es)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
SG11201806812SA (en) 2016-02-12 2018-09-27 Regeneron Pharma Methods and systems for detection of abnormal karyotypes
US11608533B1 (en) * 2017-08-21 2023-03-21 The General Hospital Corporation Compositions and methods for classifying tumors with microsatellite instability
SG11202110655UA (en) * 2019-03-28 2021-10-28 Phase Genomics Inc Systems and methods for karyotyping by sequencing
CN112037174B (zh) * 2020-08-05 2024-03-01 湖南自兴智慧医疗科技有限公司 染色体异常检测方法、装置、设备及计算机可读存储介质
US20220108773A1 (en) * 2020-10-07 2022-04-07 Baidu Usa Llc Systems and methods for genome analysis and visualization
CN112599189B (zh) * 2020-12-29 2024-06-18 北京优迅医学检验实验室有限公司 一种全基因组测序的数据质量评估方法及其应用
CN112687336B (zh) * 2021-03-11 2021-06-22 北京贝瑞和康生物技术有限公司 确定upd类型的方法、计算设备和存储介质
CN113113085B (zh) * 2021-03-15 2022-08-19 杭州杰毅生物技术有限公司 基于智能宏基因组测序数据肿瘤检测的分析系统及方法
CN114049914B (zh) * 2022-01-14 2022-04-15 苏州贝康医疗器械有限公司 一体化检测cnv、单亲二体、三倍体和roh的方法及装置
CN114743593B (zh) * 2022-06-13 2023-02-24 北京橡鑫生物科技有限公司 一种基于尿液进行前列腺癌早期筛查模型的构建方法、筛查模型及试剂盒

Family Cites Families (425)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5840484A (en) 1992-07-17 1998-11-24 Incyte Pharmaceuticals, Inc. Comparative gene transcript analysis
US8078407B1 (en) 1997-03-28 2011-12-13 Health Hero Network, Inc. System and method for identifying disease-influencing genes
AU7137798A (en) 1997-04-17 1998-11-11 Glaxo Group Limited Statistical deconvoluting of mixtures
US7734656B2 (en) 1998-02-24 2010-06-08 Luc Bessette System and method for electronically managing medical data files in order to facilitate genetic research
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
US6703228B1 (en) 1998-09-25 2004-03-09 Massachusetts Institute Of Technology Methods and products related to genotyping and DNA analysis
US20010034023A1 (en) 1999-04-26 2001-10-25 Stanton Vincent P. Gene sequence variations with utility in determining the treatment of disease, in genes relating to drug processing
CA2369485A1 (en) 1999-06-25 2001-01-04 Genaissance Pharmaceuticals, Inc. Methods for obtaining and using haplotype data
US20030190644A1 (en) 1999-10-13 2003-10-09 Andreas Braun Methods for generating databases and databases for identifying polymorphic genetic markers
WO2001035316A2 (en) 1999-11-10 2001-05-17 Structural Bioinformatics, Inc. Computationally derived protein structures in pharmacogenomics
US6658396B1 (en) 1999-11-29 2003-12-02 Tang Sharon S Neural network drug dosage estimation
US20030208454A1 (en) 2000-03-16 2003-11-06 Rienhoff Hugh Y. Method and system for populating a database for further medical characterization
US6532467B1 (en) 2000-04-10 2003-03-11 Sas Institute Inc. Method for selecting node variables in a binary decision tree structure
US20030195707A1 (en) 2000-05-25 2003-10-16 Schork Nicholas J Methods of dna marker-based genetic analysis using estimated haplotype frequencies and uses thereof
WO2001092576A1 (en) 2000-05-26 2001-12-06 Duke University Methods of screening for parkinson's disease
AU2001273661A1 (en) 2000-06-30 2002-01-14 Duke University Methods of screening for alzheimer's disease
WO2002017207A2 (en) 2000-08-23 2002-02-28 Arexis Ab System and method of storing genetic information
AU2001275020A1 (en) 2000-09-21 2002-04-02 Theradoc.Com, Inc. Systems and methods for manipulating medical data via a decision support system
US6596541B2 (en) 2000-10-31 2003-07-22 Regeneron Pharmaceuticals, Inc. Methods of modifying eukaryotic cells
US6586251B2 (en) 2000-10-31 2003-07-01 Regeneron Pharmaceuticals, Inc. Methods of modifying eukaryotic cells
US7105348B2 (en) 2000-10-31 2006-09-12 Regeneron Pharmaceuticals, Inc. Methods of modifying eukaryotic cells
US8010295B1 (en) 2000-11-06 2011-08-30 IB Security Holders LLC System and method for selectively classifying a population
US20030195706A1 (en) 2000-11-20 2003-10-16 Michael Korenberg Method for classifying genetic data
US20030104470A1 (en) 2001-08-14 2003-06-05 Third Wave Technologies, Inc. Electronic medical record, library of electronic medical records having polymorphism data, and computer systems and methods for use thereof
FR2817559B1 (fr) 2000-12-06 2003-12-12 Genodyssee Procede de determination d'un ou plusieurs polymorphisme(s) fontionnel(s) dans la sequence nucleique d'un gene "candidat" fonctionnel preselectionne et ses applications
US20020119451A1 (en) 2000-12-15 2002-08-29 Usuka Jonathan A. System and method for predicting chromosomal regions that control phenotypic traits
US20020082869A1 (en) 2000-12-27 2002-06-27 Gateway, Inc. Method and system for providing and updating customized health care information based on an individual's genome
US7957907B2 (en) 2001-03-30 2011-06-07 Sorenson Molecular Genealogy Foundation Method for molecular genealogical research
AU785425B2 (en) 2001-03-30 2007-05-17 Genetic Technologies Limited Methods of genomic analysis
US20020187483A1 (en) 2001-04-20 2002-12-12 Cerner Corporation Computer system for providing information about the risk of an atypical clinical event based upon genetic information
WO2002090589A1 (en) 2001-05-03 2002-11-14 Genomed, Llc Method to find disease-associated snps and genes
US7065451B2 (en) 2001-05-24 2006-06-20 Board Of Regents, The University Of Texas System Computer-based method for creating collections of sequences from a dataset of sequence identifiers corresponding to natural complex biopolymer sequences and linked to corresponding annotations
CA2872499C (en) 2001-05-25 2016-07-05 Hitachi, Ltd. Information processing system using nucleotide sequence related information
US6909971B2 (en) 2001-06-08 2005-06-21 Licentia Oy Method for gene mapping from chromosome and phenotype data
FI114551B (fi) 2001-06-13 2004-11-15 Licentia Oy Menetelmä, muistiväline ja tietokonejärjestelmä geenipaikannuksen kromosomi- ja fenotyyppidatasta
US20030113756A1 (en) 2001-07-18 2003-06-19 Lawrence Mertz Methods of providing customized gene annotation reports
WO2003010537A1 (en) 2001-07-24 2003-02-06 Curagen Corporation Family based tests of association using pooled dna and snp markers
WO2003014879A2 (en) 2001-08-08 2003-02-20 Curagen Corporation System and method for identifying a genetic risk factor for a disease or pathology
US7529685B2 (en) 2001-08-28 2009-05-05 Md Datacor, Inc. System, method, and apparatus for storing, retrieving, and integrating clinical, diagnostic, genomic, and therapeutic data
US7461006B2 (en) 2001-08-29 2008-12-02 Victor Gogolak Method and system for the analysis and association of patient-specific and population-based genomic data with drug safety adverse event data
US20040142325A1 (en) 2001-09-14 2004-07-22 Liat Mintz Methods and systems for annotating biomolecular sequences
US20030211504A1 (en) 2001-10-09 2003-11-13 Kim Fechtel Methods for identifying nucleic acid polymorphisms
US20130246079A1 (en) 2012-03-14 2013-09-19 Mark A. Hoffman Determining a potential for atypical clinical events when selecting clinical agents
US20040086888A1 (en) 2001-10-18 2004-05-06 Kornblith Paul L Method for tandem genomic/proteomic analysis of proliferating cells
US20030104453A1 (en) 2001-11-06 2003-06-05 David Pickar System for pharmacogenetics of adverse drug events
US20030138778A1 (en) 2001-11-30 2003-07-24 Garner Harold R. Prediction of disease-causing alleles from sequence context
US7107155B2 (en) 2001-12-03 2006-09-12 Dnaprint Genomics, Inc. Methods for the identification of genetic features for complex genetics classifiers
AU2002361871A1 (en) 2001-12-03 2003-06-17 Dnaprint Genomics, Inc. Methods and apparatus for complex genetics classification based on correspondence analysis and linear/quadratic analysis
US20040267458A1 (en) 2001-12-21 2004-12-30 Judson Richard S. Methods for obtaining and using haplotype data
US20050256649A1 (en) 2001-12-21 2005-11-17 Roses Allen D High throughput correlation of polymorphic forms with multiple phenotypes within clinical populations
US7383134B2 (en) 2002-01-15 2008-06-03 Piper James R Method and/or system for analyzing biological samples using a computer system
JP4594622B2 (ja) 2002-02-04 2010-12-08 インジェヌイティ システムズ インコーポレイテッド 薬発見法
US7324928B2 (en) 2002-03-06 2008-01-29 Kitchen Scott G Method and system for determining phenotype from genotype
US8725418B2 (en) 2002-03-25 2014-05-13 Janssen Pharmaceutica, N.V. Data mining of SNP databases for the selection of intragenic SNPs
US7135286B2 (en) 2002-03-26 2006-11-14 Perlegen Sciences, Inc. Pharmaceutical and diagnostic business systems and methods
FI116468B (fi) 2002-04-04 2005-11-30 Licentia Oy Geenikartoitusmenetelmä genotyyppi- ja fenotyyppidatasta sekä muistiväline ja tietokonejärjestelmä menetelmän suorittamiseksi
US20040175700A1 (en) 2002-05-15 2004-09-09 Elixir Pharmaceuticals, Inc. Method for cohort selection
US20040115701A1 (en) 2002-08-30 2004-06-17 Comings David E Method for risk assessment for polygenic disorders
US20040219567A1 (en) 2002-11-05 2004-11-04 Andrea Califano Methods for global pattern discovery of genetic association in mapping genetic traits
US20090012928A1 (en) 2002-11-06 2009-01-08 Lussier Yves A System And Method For Generating An Amalgamated Database
US7822555B2 (en) 2002-11-11 2010-10-26 Affymetrix, Inc. Methods for identifying DNA copy number changes
US20040161779A1 (en) 2002-11-12 2004-08-19 Affymetrix, Inc. Methods, compositions and computer software products for interrogating sequence variations in functional genomic regions
CN1774511B (zh) 2002-11-27 2013-08-21 斯昆诺有限公司 用于序列变异检测和发现的基于断裂的方法和系统
US20040146870A1 (en) 2003-01-27 2004-07-29 Guochun Liao Systems and methods for predicting specific genetic loci that affect phenotypic traits
JP5348840B2 (ja) 2003-02-20 2013-11-20 メイヨ・ファウンデーション・フォー・メディカル・エデュケーション・アンド・リサーチ 薬物を選択する方法
US7584058B2 (en) 2003-02-27 2009-09-01 Methexis Genomics N.V. Genetic diagnosis using multiple sequence variant analysis
US20050019787A1 (en) 2003-04-03 2005-01-27 Perlegen Sciences, Inc., A Delaware Corporation Apparatus and methods for analyzing and characterizing nucleic acid sequences
US8417459B2 (en) 2003-04-09 2013-04-09 Omicia, Inc. Methods of selection, reporting and analysis of genetic markers using broad-based genetic profiling applications
US20040249677A1 (en) 2003-05-19 2004-12-09 Debarshi Datta Comprehensive searchable medical record system supporting healthcare delivery and experiment
US20070112585A1 (en) 2003-08-01 2007-05-17 Breiter Hans C Cognition analysis
US20050086035A1 (en) 2003-09-02 2005-04-21 Pioneer Hi-Bred International, Inc. Computer systems and methods for genotype to phenotype mapping using molecular network models
US20050176031A1 (en) 2003-10-30 2005-08-11 Sears Christopher P. Kinship analysis program for missing persons and mass disaster
EP1706507A4 (en) 2003-11-26 2008-02-20 Univ Ohio State Res Found THE RISK AND PROGRESSION OF MULTIPLE SCLEROSIS PREDICTING POLYMORPHS CD24 GENOTYPES
US20050214811A1 (en) 2003-12-12 2005-09-29 Margulies David M Processing and managing genetic information
WO2005073408A2 (en) 2004-01-23 2005-08-11 Pyxis Genomics, Inc. Small segments of dna determine animal identity and source
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
EP1607898A3 (en) 2004-05-18 2006-03-29 Neal E. Solomon A bioinformatics system for functional proteomics modelling
US8335652B2 (en) 2004-06-23 2012-12-18 Yougene Corp. Self-improving identification method
US7622271B2 (en) 2004-07-26 2009-11-24 University Of Washington Identification of aging genes through large-scale analysis
US7937225B2 (en) 2004-09-03 2011-05-03 New York University Systems, methods and software arrangements for detection of genome copy number variation
US20080091358A1 (en) 2004-12-21 2008-04-17 Applied Research Systems Ars Holcing, N.V. Method And System For Identifying Gene-Trait Linkages
US7424371B2 (en) 2004-12-21 2008-09-09 Helicos Biosciences Corporation Nucleic acid analysis
RU2007124523A (ru) 2004-12-30 2009-02-10 ПРОВЕНТИС, Инк., (US) Способы, системы и компьютерные программные продукты для разработки и использования прогнозных моделей для прогнозирования большинства медицинских случаев, оценки стратегий вмешательства и для одновременной оценки нерегулярности биологических маркеров
US20060286566A1 (en) 2005-02-03 2006-12-21 Helicos Biosciences Corporation Detecting apparent mutations in nucleic acid sequences
WO2006099259A2 (en) 2005-03-11 2006-09-21 The Uab Research Foundation Novel missense mutations and single nucleotide polymorphisms in the rabphillin-3a-like gene and uses thereof
US7603325B2 (en) 2005-04-07 2009-10-13 Jacobson David L Concurrent two-phase completion genetic algorithm system and methods
US20060269476A1 (en) 2005-05-31 2006-11-30 Kuo Michael D Method for integrating large scale biological data with imaging
US8515679B2 (en) 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US20070027636A1 (en) 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US7630947B2 (en) 2005-08-25 2009-12-08 Siemens Medical Solutions Usa, Inc. Medical ontologies for computer assisted clinical decision support
US20070122824A1 (en) 2005-09-09 2007-05-31 Tucker Mark R Method and Kit for Assessing a Patient's Genetic Information, Lifestyle and Environment Conditions, and Providing a Tailored Therapeutic Regime
JP2007102709A (ja) 2005-10-07 2007-04-19 Toshiba Corp 遺伝子診断用のマーカー選定プログラム、該プログラムを実行する装置及びシステム、並びに遺伝子診断システム
AU2006320633A1 (en) 2005-11-29 2007-06-07 Children's Hospital Medical Center Optimization and individualization of medication selection and dosing
EP1955141A4 (en) 2005-12-01 2011-02-23 Bioart & Res Corp ONLINE MARKETPLACE FOR ANIMAL LEGACY
EP3091462B1 (en) 2005-12-14 2020-06-17 Cold Spring Harbor Laboratory Methods for assessing probabilistic measures of clinical outcome using genomic profiling
US9141913B2 (en) 2005-12-16 2015-09-22 Nextbio Categorization and filtering of scientific data
US9183349B2 (en) 2005-12-16 2015-11-10 Nextbio Sequence-centric scientific information management
US20090181380A1 (en) 2005-12-19 2009-07-16 Abdelmajid Belouchi Genemap of the human genes associated with crohn's disease
WO2008010195A2 (es) 2006-01-11 2008-01-24 Neocodex, S.L. Método y aparato para determinar asociaciones généticas
US20070196850A1 (en) 2006-01-27 2007-08-23 University Of Washington Identification of aging genes through large-scale analysis
US8340950B2 (en) 2006-02-10 2012-12-25 Affymetrix, Inc. Direct to consumer genotype-based products and services
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
WO2007133506A2 (en) 2006-05-09 2007-11-22 University Of Louisville Research Foundation , Inc. Personalized medicine management software
US8372584B2 (en) 2006-06-14 2013-02-12 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US8579811B2 (en) 2006-09-19 2013-11-12 3M Innovative Properties Company Medical diagnosis derived from patient drug history data
US8095389B2 (en) 2006-07-17 2012-01-10 H. Lee Moffitt Cancer Center And Research Institute, Inc. Computer systems and methods for selecting subjects for clinical trials
US8122073B2 (en) 2006-09-29 2012-02-21 The Invention Science Fund I Computational systems for biomedical data
US7809660B2 (en) 2006-10-03 2010-10-05 International Business Machines Corporation System and method to optimize control cohorts using clustering algorithms
US20090137402A1 (en) 2006-10-11 2009-05-28 San Ming Wang Ditag genome scanning technology
EP1918837A1 (en) 2006-10-31 2008-05-07 F. Hoffmann-La Roche AG Method for processing a chronological sequence of measurements of a time dependent parameter
US20080131887A1 (en) 2006-11-30 2008-06-05 Stephan Dietrich A Genetic Analysis Systems and Methods
US20110014607A1 (en) 2006-12-06 2011-01-20 Jirtle Randy L Imprinted genes and disease
US10094836B2 (en) 2007-01-08 2018-10-09 The United States Of America, As Represented By The Secretary, Department Of Health & Human Services SLCO1B3 genotype
US8050870B2 (en) 2007-01-12 2011-11-01 Microsoft Corporation Identifying associations using graphical models
US8099298B2 (en) 2007-02-14 2012-01-17 Genelex, Inc Genetic data analysis and database tools
CA2679014A1 (en) 2007-02-23 2008-08-28 Progenika Biopharma, S.A. Method and product for "in vitro" genotyping with applications in anti-aging medicine
WO2008108964A2 (en) 2007-03-02 2008-09-12 The Ohio State University Research Foundation Death associated protein kinase 1 (dapk1) and uses thereof for the treatment of chronic lymphocytic leukemia
US20080228699A1 (en) 2007-03-16 2008-09-18 Expanse Networks, Inc. Creation of Attribute Combination Databases
US8140270B2 (en) 2007-03-22 2012-03-20 National Center For Genome Resources Methods and systems for medical sequencing analysis
WO2008136989A2 (en) 2007-04-30 2008-11-13 The Ohio State University Research Foundation Polymorphisms in genes affecting sod2-related disorders and uses thereof
US20080281529A1 (en) 2007-05-10 2008-11-13 The Research Foundation Of State University Of New York Genomic data processing utilizing correlation analysis of nucleotide loci of multiple data sets
EP2179062A2 (en) 2007-06-13 2010-04-28 Decode Genetics EHF Genetic variants on chr 15q24 as markers for use in diagnosis, prognosis and treatment of exfoliation syndrome and glaucoma
PL2183693T5 (pl) 2007-07-23 2019-04-30 Univ Hong Kong Chinese Diagnozowanie aneuploidii chromosomów u płodu przy użyciu sekwencjonowania genomowego
US7979215B2 (en) 2007-07-30 2011-07-12 Agilent Technologies, Inc. Methods and systems for evaluating CGH candidate probe nucleic acid sequences
CA2702169A1 (en) 2007-10-12 2009-04-16 Decode Genetics Ehf Sequence variants for inferring human pigmentation patterns
EP2211687A4 (en) 2007-10-12 2013-08-21 Patientslikeme Inc PERSONALIZED MANAGEMENT AND SURVEILLANCE OF PATHOLOGICAL CONDITIONS
US8510057B1 (en) 2007-10-15 2013-08-13 23Andme, Inc. Summarizing an aggregate contribution to a characteristic for an individual
US8589437B1 (en) 2007-10-15 2013-11-19 23Andme, Inc. De-identification and sharing of genetic data
US20110004616A1 (en) 2007-10-31 2011-01-06 National Institute Of Agrobiological Sciences Base sequence determination program, base sequence determination device, and base sequence determination method
US8996318B2 (en) 2007-12-28 2015-03-31 Pioneer Hi-Bred International, Inc. Using oligonucleotide microarrays to analyze genomic differences for the prediction of heterosis
US20090198519A1 (en) 2008-01-31 2009-08-06 Mcnamar Richard Timothy System for gene testing and gene research while ensuring privacy
NZ587903A (en) 2008-02-14 2013-05-31 Decode Genetics Ehf Susceptibility for lung cancer using the polymorphic marker rs1051730
WO2009105591A2 (en) 2008-02-19 2009-08-27 The Regents Of The University Of California Methods and systems for genome-scale kinetic modeling
US20110087693A1 (en) 2008-02-29 2011-04-14 John Boyce Methods and Systems for Social Networking Based on Nucleic Acid Sequences
US20090307179A1 (en) 2008-03-19 2009-12-10 Brandon Colby Genetic analysis
US20090240441A1 (en) 2008-03-20 2009-09-24 Helicos Biosciences Corporation System and method for analysis and presentation of genomic data
US8731956B2 (en) 2008-03-21 2014-05-20 Signature Genomic Laboratories Web-based genetics analysis
US20100130526A1 (en) 2008-05-30 2010-05-27 Glinsky Gennadi V Methods for Disease Therapy
US8639446B1 (en) 2008-06-24 2014-01-28 Trigeminal Solutions, Inc. Technique for identifying association variables
US20110111419A1 (en) 2008-07-04 2011-05-12 deCODE Geneties ehf. Copy Number Variations Predictive of Risk of Schizophrenia
NZ590833A (en) 2008-07-07 2013-01-25 Decode Genetics Ehf Genetic variants for breast cancer risk assessment
WO2010004589A2 (en) 2008-07-07 2010-01-14 Decode Genetics Ehf Genetic variants predictive of cancer risk in humans
CA2733910A1 (en) 2008-08-12 2010-02-18 Decode Genetics Ehf. Genetic variants useful for risk assessment of thyroid cancer
US20110212855A1 (en) 2008-08-15 2011-09-01 Decode Genetics Ehf. Genetic Variants Predictive of Cancer Risk
WO2010024894A1 (en) 2008-08-26 2010-03-04 23Andme, Inc. Processing data from genotyping chips
US7917438B2 (en) 2008-09-10 2011-03-29 Expanse Networks, Inc. System for secure mobile healthcare selection
US20140200824A1 (en) 2008-09-19 2014-07-17 University Of Pittsburgh Of The Commonwealth System Of Higher Education K-partite graph based formalism for characterization of complex phenotypes in clinical data analyses and disease outcome prognosis
SI2334812T1 (sl) 2008-09-20 2017-05-31 The Board of Trustees of the Leland Stanford Junior University Office of the General Counsel Building 170 Neinvazivna diagnoza fetalne anevploidije s sekvenciranjem
WO2010045252A1 (en) 2008-10-14 2010-04-22 Casework Genetics System and method for inferring str allelic genotype from snps
NZ572036A (en) 2008-10-15 2010-03-26 Nikola Kirilov Kasabov Data analysis and predictive systems and related methodologies
US8954337B2 (en) 2008-11-10 2015-02-10 Signature Genomic Interactive genome browser
NZ593628A (en) 2008-11-26 2013-07-26 Decode Genetics Ehf Genetic variants useful for risk assessment of thyroid cancer using rs944289
US8367333B2 (en) 2008-12-12 2013-02-05 Decode Genetics Ehf. Genetic variants as markers for use in diagnosis, prognosis and treatment of eosinophilia, asthma, and myocardial infarction
EP2370929A4 (en) 2008-12-31 2016-11-23 23Andme Inc SEARCH FOR RELATED IN A DATABASE
NZ595918A (en) 2009-04-03 2013-07-26 Decode Genetics Ehf Genetic markers for risk management of atrial fibrillation and stroke
US20130035954A1 (en) 2009-05-07 2013-02-07 Pathway Genomics Genomics-based alerting systems
EP2451975A4 (en) 2009-05-08 2013-08-14 Decode Genetics Ehf GENETIC VARIANTS CONTRIBUTING TO A RISK OF PROSTATE CANCER
NZ598009A (en) 2009-07-10 2013-11-29 Decode Genetics Ehf Genetic markers associated with risk of diabetes mellitus
US20110202486A1 (en) 2009-07-21 2011-08-18 Glenn Fung Healthcare Information Technology System for Predicting Development of Cardiovascular Conditions
US8639639B2 (en) 2009-08-31 2014-01-28 Bhagwan Mahavir Medical Research Centre Predicting possible outcomes in multi-factored diseases
US8315957B2 (en) 2009-09-01 2012-11-20 Microsoft Corporation Predicting phenotypes using a probabilistic predictor
US20120215459A1 (en) 2009-09-04 2012-08-23 Marianne Stef High throughput detection of genomic copy number variations
WO2011050076A1 (en) 2009-10-20 2011-04-28 Genepeeks, Inc. Methods and systems for pre-conceptual prediction of progeny attributes
WO2011050341A1 (en) 2009-10-22 2011-04-28 National Center For Genome Resources Methods and systems for medical sequencing analysis
EP2494069B1 (en) 2009-10-30 2013-10-02 Roche Diagniostics GmbH Method for detecting balanced chromosomal aberrations in a genome
EP2328126A1 (en) 2009-11-27 2011-06-01 Technical University of Denmark Genome-wide association study identifying determinants of facial characteristics for facial image generation
US9798855B2 (en) 2010-01-07 2017-10-24 Affymetrix, Inc. Differential filtering of genetic data
US20140206552A1 (en) * 2010-05-18 2014-07-24 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
KR102042253B1 (ko) 2010-05-25 2019-11-07 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 Ｂａｍｂａｍ：고처리율 서열분석 데이터의 병렬 비교 분석
US20130224739A1 (en) 2010-06-22 2013-08-29 Decode Genetics Ehf. Genetic markers for risk management of vascular disease
US20120016594A1 (en) 2010-07-02 2012-01-19 Coriell Institute For Medical Research, Inc. Method for translating genetic information for use in pharmacogenomic molecular diagnostics and personalized medicine research
WO2012006291A2 (en) 2010-07-06 2012-01-12 Life Technologies Corporation Systems and methods to detect copy number variation
EP2601609B1 (en) 2010-08-02 2017-05-17 Population Bio, Inc. Compositions and methods for discovery of causative mutations in genetic disorders
US9141755B2 (en) 2010-08-26 2015-09-22 National Institute Of Biomedical Innovation Device and method for selecting genes and proteins
WO2012030967A1 (en) 2010-08-31 2012-03-08 Knome, Inc. Personal genome indexer
WO2012031031A2 (en) 2010-08-31 2012-03-08 Lawrence Ganeshalingam Method and systems for processing polymeric sequence data and related information
WO2012034030A1 (en) 2010-09-09 2012-03-15 Omicia, Inc. Variant annotation, analysis and selection tool
US20130316915A1 (en) 2010-10-13 2013-11-28 Aaron Halpern Methods for determining absolute genome-wide copy number variations of complex tumors
US8725422B2 (en) 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
AU2011317023B2 (en) 2010-10-21 2016-04-14 Mayo Foundation For Medical Education And Research Methods for selecting medications for treating patients having attention-deficit hyperactivity disorder
US8700337B2 (en) 2010-10-25 2014-04-15 The Board Of Trustees Of The Leland Stanford Junior University Method and system for computing and integrating genetic and environmental health risks for a personal genome
US20120102054A1 (en) 2010-10-25 2012-04-26 Life Technologies Corporation Systems and Methods for Annotating Biomolecule Data
KR101325736B1 (ko) 2010-10-27 2013-11-08 삼성에스디에스 주식회사 바이오 마커 추출 장치 및 방법
US20120110013A1 (en) 2010-10-28 2012-05-03 Jorge Conde Flexibly Filterable Visual Overlay Of Individual Genome Sequence Data Onto Biological Relational Networks
EP2636003B1 (en) 2010-11-01 2019-08-14 Koninklijke Philips N.V. In vitro diagnostic testing including automated brokering of royalty payments for proprietary tests
EP2640857A4 (en) 2010-11-18 2014-04-30 Decode Genetics Ehf GENETIC RISK FACTORS OF SINUS NODE SYNDROME
WO2012071564A2 (en) 2010-11-25 2012-05-31 Portable Genomics Llc Organization, visualization and utilization of genomic data on electronic devices
WO2012085948A1 (en) 2010-12-21 2012-06-28 Decode Genetics Ehf Genetic variants useful for risk assessment of thyroid cancer
KR20140006846A (ko) 2010-12-29 2014-01-16 다우 아그로사이언시즈 엘엘씨 Dna 서열의 데이터 분석
US9534256B2 (en) 2011-01-06 2017-01-03 Wake Forest University Health Sciences Methods and compositions for correlating genetic markers with risk of aggressive prostate cancer
EP2663656B1 (en) 2011-01-13 2016-08-24 Decode Genetics EHF Genetic variants as markers for use in urinary bladder cancer risk assessment
JP6420543B2 (ja) 2011-01-19 2018-11-07 コーニンクレッカ フィリップス エヌ ヴェＫｏｎｉｎｋｌｉｊｋｅ Ｐｈｉｌｉｐｓ Ｎ．Ｖ． ゲノムデータ処理方法
US20120191366A1 (en) 2011-01-20 2012-07-26 Nathaniel Pearson Methods and Apparatus for Assigning a Meaningful Numeric Value to Genomic Variants, and Searching and Assessing Same
RU2013140708A (ru) 2011-02-04 2015-03-10 Конинклейке Филипс Н.В. Способ для оценки потока информации в биологических сетях
CA2824387C (en) * 2011-02-09 2019-09-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20140044668A1 (en) 2011-02-15 2014-02-13 The Ohio State University Methods for Predicting Cardiovascular Risks and Responsiveness to Statin Therapy Using SNPs
US20120215463A1 (en) 2011-02-23 2012-08-23 The Mitre Corporation Rapid Genomic Sequence Homology Assessment Scheme Based on Combinatorial-Analytic Concepts
EP2681709A4 (en) 2011-03-04 2015-05-06 Kew Group Llc PERSONALIZED MEDICAL MANAGEMENT SYSTEM, NETWORKS AND ASSOCIATED METHODS
US9215162B2 (en) 2011-03-09 2015-12-15 Annai Systems Inc. Biological data networks and methods therefor
EP2686443A4 (en) 2011-03-17 2014-12-17 Decode Genetics Ehf GENETIC VARIANTS USEFUL IN ESTIMATING THE RISK OF THYROID CANCER
US10127346B2 (en) 2011-04-13 2018-11-13 The Board Of Trustees Of The Leland Stanford Junior University Systems and methods for interpreting a human genome using a synthetic reference sequence
WO2012155148A2 (en) 2011-05-12 2012-11-15 University Of Utah Research Foundation Predicting gene variant pathogenicity
AU2012255722B2 (en) 2011-05-17 2017-04-13 Commonwealth Scientific And Industrial Research Organisation Computer-implemented method and system for detecting interacting DNA loci
US20150169828A1 (en) 2011-05-19 2015-06-18 Donald Spector Method and system for collecting medical data
US9928338B2 (en) 2011-06-01 2018-03-27 The Board Of Trustees Of The Leland Stanford Junior University Method and system for phasing individual genomes in the context of clinical interpretation
CN103797486A (zh) 2011-06-06 2014-05-14 皇家飞利浦有限公司 用于组装核酸序列数据的方法
WO2012177774A2 (en) 2011-06-21 2012-12-27 Life Technologies Corporation Systems and methods for hybrid assembly of nucleic acid sequences
CN104120181B (zh) * 2011-06-29 2017-06-09 深圳华大基因股份有限公司 对染色体测序结果进行gc校正的方法及装置
ES2512448T3 (es) * 2011-06-29 2014-10-24 Bgi Diagnosis Co., Ltd. Detección no invasiva de anormalidades genéticas fetales
US8718950B2 (en) 2011-07-08 2014-05-06 The Medical College Of Wisconsin, Inc. Methods and apparatus for identification of disease associated mutations
ES2532529T3 (es) 2011-07-15 2015-03-27 Airbus Ds Gmbh Navegación relativa a plataforma utilizando mediciones de rango
US9898687B2 (en) 2011-08-03 2018-02-20 Trigeminal Solutions, Inc. Technique for identifying association variables
EP2740026A4 (en) 2011-08-03 2015-06-24 Ingenuity Systems Inc METHOD AND SYSTEMS FOR BIOLOGICAL DATA ANALYSIS
WO2013023220A2 (en) 2011-08-11 2013-02-14 Life Technologies Corporation Systems and methods for nucleic acid-based identification
CN102952854B (zh) 2011-08-25 2015-01-14 深圳华大基因科技有限公司 单细胞分类和筛选方法及其装置
CN102952855B (zh) 2011-08-26 2015-05-20 深圳华大基因科技服务有限公司 遗传图谱构建方法和装置、单体型分析方法和装置
US8793245B2 (en) 2011-09-22 2014-07-29 Patrick Kwete Personalized medical treatment provision software
CA2812342C (en) 2011-09-26 2015-04-07 John TRAKADIS Method and system for genetic trait search based on the phenotype and the genome of a human subject
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130091126A1 (en) 2011-10-11 2013-04-11 Life Technologies Corporation Systems and methods for analysis and interpretation of nucleic acid sequence data
US9228233B2 (en) 2011-10-17 2016-01-05 Good Start Genetics, Inc. Analysis methods
US20140274745A1 (en) 2011-10-28 2014-09-18 Bgi Diagnosis Co., Ltd. Method for detecting micro-deletion and micro-repetition of chromosome
US9773091B2 (en) 2011-10-31 2017-09-26 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
US20140359422A1 (en) 2011-11-07 2014-12-04 Ingenuity Systems, Inc. Methods and Systems for Identification of Causal Genomic Variants
KR101922129B1 (ko) 2011-12-05 2018-11-26 삼성전자주식회사 차세대 시퀀싱을 이용하여 획득된 유전 정보를 압축 및 압축해제하는 방법 및 장치
EP2613278A2 (en) 2011-12-05 2013-07-10 Koninklijke Philips Electronics N.V. Retroactive extraction of clinically relevant information from patient sequencing data for clinical decision support
US9734283B2 (en) 2011-12-30 2017-08-15 Washington State University Genomic features associated with epigenetic control regions and transgenerational inheritance of epimutations
US20130184999A1 (en) 2012-01-05 2013-07-18 Yan Ding Systems and methods for cancer-specific drug targets and biomarkers discovery
CN103198236B (zh) 2012-01-06 2017-02-15 深圳华大基因股份有限公司 Cyp450基因型别数据库及基因分型、酶活性鉴定方法
US20130212125A1 (en) 2012-01-24 2013-08-15 The Board Of Regents Of The University Of Oklahoma Bioinformatics search tool system for retrieving and summarizing genotypic and phenotypic data for diagnosing patients
US20140046926A1 (en) 2012-02-06 2014-02-13 Mycare, Llc Systems and methods for searching genomic databases
US20160253770A1 (en) 2012-02-11 2016-09-01 Yougene Corp Systems and methods for genetic testing algorithms
US20130246033A1 (en) 2012-03-14 2013-09-19 Microsoft Corporation Predicting phenotypes of a living being in real-time
US20130245958A1 (en) 2012-03-15 2013-09-19 Siemens Aktiengesellschaft Accurate comparison and validation of single nucleotide variants
US9552458B2 (en) 2012-03-16 2017-01-24 The Research Institute At Nationwide Children's Hospital Comprehensive analysis pipeline for discovery of human genetic variation
US20130261984A1 (en) 2012-03-30 2013-10-03 Illumina, Inc. Methods and systems for determining fetal chromosomal abnormalities
US20130268290A1 (en) 2012-04-02 2013-10-10 David Jackson Systems and methods for disease knowledge modeling
EA038600B1 (ru) 2012-04-02 2021-09-21 Берг Ллк Основанные на клетках перекрестные анализы и их применение
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
US20150056619A1 (en) 2012-04-05 2015-02-26 Bgi Diagnosis Co., Ltd. Method and system for determining copy number variation
CN107841543B (zh) 2012-04-06 2021-12-31 香港中文大学 通过使用靶向大规模并行测序的等位基因比率分析进行的胎儿三体性的非侵入性产前诊断
US8812422B2 (en) 2012-04-09 2014-08-19 Good Start Genetics, Inc. Variant database
CN104428425A (zh) * 2012-05-04 2015-03-18 考利达基因组股份有限公司 测定复杂肿瘤全基因组绝对拷贝数变异的方法
KR101987477B1 (ko) 2012-05-07 2019-06-10 엘지전자 주식회사 바이오마커 발굴 방법
US20130345066A1 (en) 2012-05-09 2013-12-26 Life Technologies Corporation Systems and methods for identifying sequence variation
US8812243B2 (en) 2012-05-09 2014-08-19 International Business Machines Corporation Transmission and compression of genetic data
US8855938B2 (en) 2012-05-18 2014-10-07 International Business Machines Corporation Minimization of surprisal data through application of hierarchy of reference genomes
US20150105267A1 (en) 2012-05-24 2015-04-16 University Of Washington Through Its Center For Commercialization Whole genome sequencing of a human fetus
US9201916B2 (en) 2012-06-13 2015-12-01 Infosys Limited Method, system, and computer-readable medium for providing a scalable bio-informatics sequence search on cloud
WO2014008434A2 (en) 2012-07-06 2014-01-09 Nant Holdings Ip, Llc Healthcare analysis stream management
US9092401B2 (en) 2012-10-31 2015-07-28 Counsyl, Inc. System and methods for detecting genetic variation
JP6310456B2 (ja) 2012-08-07 2018-04-11 コーニンクレッカ フィリップス エヌ ヴェＫｏｎｉｎｋｌｉｊｋｅ Ｐｈｉｌｉｐｓ Ｎ．Ｖ． ツリー型空間データ構造を使用した遺伝子データセットの母集団分類
EP2882867A1 (en) 2012-08-10 2015-06-17 The Broad Institute, Inc. Methods and apparatus for analyzing and quantifying dna alterations in cancer
WO2014026152A2 (en) 2012-08-10 2014-02-13 Assurerx Health, Inc. Systems and methods for pharmacogenomic decision support in psychiatry
WO2014036167A1 (en) 2012-08-28 2014-03-06 The Broad Institute, Inc. Detecting variants in sequencing data and benchmarking
US9449143B2 (en) 2012-08-28 2016-09-20 Inova Health System Ancestral-specific reference genomes and uses thereof
US9165253B2 (en) 2012-08-31 2015-10-20 Real Time Genomics Limited Method of evaluating genomic sequences
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160004814A1 (en) 2012-09-05 2016-01-07 University Of Washington Through Its Center For Commercialization Methods and compositions related to regulation of nucleic acids
EP2893478A1 (en) 2012-09-06 2015-07-15 Ancestry.com DNA, LLC Using haplotypes to infer ancestral origins for recently admixed individuals
CA2885834A1 (en) 2012-09-27 2014-04-03 The Children's Mercy Hospital System for genome analysis and genetic disease diagnosis
US20140089009A1 (en) 2012-09-27 2014-03-27 Wobblebase, Inc. Method for Personal Genome Data Management
US20140088942A1 (en) 2012-09-27 2014-03-27 Ambry Genetics Molecular genetic diagnostic system
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
GB201217888D0 (en) 2012-10-05 2012-11-21 Univ Leuven Kath High-throughput genotyping by sequencing of single cell
EP2904533A4 (en) 2012-10-08 2016-06-01 Spiral Genetics Inc METHODS AND SYSTEMS FOR IDENTIFYING, FROM READING SYMBOL SEQUENCES, VARIATIONS TO A SEQUENCE OF REFERENCE SYMBOLS
KR101419753B1 (ko) 2012-10-16 2014-07-17 안형준 개인 단일 염기 다형성에 기반한 개인별 부작용 최소화 약물 검색 시스템 및 그 방법
US9916416B2 (en) 2012-10-18 2018-03-13 Virginia Tech Intellectual Properties, Inc. System and method for genotyping using informed error profiles
WO2014066635A1 (en) 2012-10-24 2014-05-01 Complete Genomics, Inc. Genome explorer system to process and present nucleotide variations in genome sequence data
HUP1200622A2 (en) 2012-10-30 2014-05-28 Budapesti Mueszaki Es Gazdasagtudomanyi Egyetem Method and computer program product for genotype classification
US9977708B1 (en) 2012-11-08 2018-05-22 23Andme, Inc. Error correction in ancestry classification
US20140143188A1 (en) 2012-11-16 2014-05-22 Genformatic, Llc Method of machine learning, employing bayesian latent class inference: combining multiple genomic feature detection algorithms to produce an integrated genomic feature set with specificity, sensitivity and accuracy
TWI489305B (zh) * 2012-11-21 2015-06-21 Bgi Diagnosis Co Ltd 對胎兒遺傳異常的無創性檢測
US20150310165A1 (en) 2012-11-26 2015-10-29 Illumina, Inc. Efficient comparison of polynucleotide sequences
US10679726B2 (en) 2012-11-26 2020-06-09 Koninklijke Philips N.V. Diagnostic genetic analysis using variant-disease association with patient-specific relevance assessment
US9218450B2 (en) 2012-11-29 2015-12-22 Roche Molecular Systems, Inc. Accurate and fast mapping of reads to genome
WO2014089356A1 (en) 2012-12-05 2014-06-12 Genepeeks, Inc. System and method for the computational prediction of expression of single-gene phenotypes
US9836577B2 (en) 2012-12-14 2017-12-05 Celmatix, Inc. Methods and devices for assessing risk of female infertility
WO2014099979A2 (en) 2012-12-17 2014-06-26 Virginia Tech Intellectual Properties, Inc. Methods and compositions for identifying global microsatellite instability and for characterizing informative microsatellite loci
US20150046191A1 (en) 2013-01-05 2015-02-12 Foundation Medicine, Inc. System and method for managing genomic information
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
WO2014110350A2 (en) 2013-01-11 2014-07-17 Oslo Universitetssykehus Hf Systems and methods for identifying polymorphisms
US20140222349A1 (en) 2013-01-16 2014-08-07 Assurerx Health, Inc. System and Methods for Pharmacogenomic Classification
WO2014113204A1 (en) 2013-01-17 2014-07-24 Personalis, Inc. Methods and systems for genetic analysis
GB202020510D0 (en) 2013-01-17 2021-02-03 Edico Genome Corp Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20160153032A9 (en) 2013-01-25 2016-06-02 Signature Diagnostics Ag Method for predicting a manifestation of an outcome measure of a cancer patient
US10381106B2 (en) 2013-01-28 2019-08-13 Hasso-Plattner-Institut Fuer Softwaresystemtechnik Gmbh Efficient genomic read alignment in an in-memory database
US11031097B2 (en) 2013-01-28 2021-06-08 Hasso-Plattner Institut fuer Softwaresystemtechnik GmbH System for genomic data processing with an in-memory database system and real-time analysis
WO2014121128A1 (en) 2013-02-01 2014-08-07 Life Technologies Corporation Methods, systems, and computer readable media for exchanging genomic and/or patient information
KR101770962B1 (ko) 2013-02-01 2017-08-24 에스케이텔레콤 주식회사 유전자 서열 기반 개인 마커에 관한 정보를 제공하는 방법 및 이를 이용한 장치
US20140244556A1 (en) 2013-02-27 2014-08-28 Abdul Saleh Methods for and apparatus generating automated pharmaco genetics correlation
US10192028B2 (en) 2013-02-28 2019-01-29 Hitachi High-Technologies Corporation Data analysis device and method therefor
EP2962270A4 (en) 2013-03-01 2016-08-24 Actx Inc CLOUD-ARTIGER MEDICAL INFORMATION SERVICE
WO2014165267A2 (en) * 2013-03-12 2014-10-09 Counsyl, Inc. Systems and methods for prenatal genetic analysis
AU2014229498B2 (en) 2013-03-13 2018-07-05 Fdna Inc. Systems, methods, and computer-readable media for identifying when a subject is likely to be affected by a medical condition
CN105556513A (zh) 2013-03-14 2016-05-04 昂托米克斯公司 用于个性化临床决策支持工具的系统和方法
WO2014152950A1 (en) 2013-03-14 2014-09-25 Wake Forest University Health Sciences Methods and compositions for correlating genetic markers with risk of aggressive prostate cancer
US20140278133A1 (en) 2013-03-15 2014-09-18 Advanced Throughput, Inc. Systems and methods for disease associated human genomic variant analysis and reporting
US9418203B2 (en) 2013-03-15 2016-08-16 Cypher Genomics, Inc. Systems and methods for genomic variant annotation
WO2014145234A2 (en) 2013-03-15 2014-09-18 Vigenetech, Inc. Systems and apparatus for integrated and comprehensive biomedical annotation of bioassay data
CA2906180C (en) 2013-03-15 2020-05-05 Ancestry.Com Dna, Llc Family networks
US10385394B2 (en) * 2013-03-15 2019-08-20 The Translational Genomics Research Institute Processes of identifying and characterizing X-linked disorders
US20140278461A1 (en) 2013-03-15 2014-09-18 Memorial Sloan-Kettering Cancer Center System and method for integrating a medical sequencing apparatus and laboratory system into a medical facility
WO2014145503A2 (en) 2013-03-15 2014-09-18 Lieber Institute For Brain Development Sequence alignment using divide and conquer maximum oligonucleotide mapping (dcmom), apparatus, system and method related thereto
US20140303901A1 (en) 2013-04-08 2014-10-09 Ilan Sadeh Method and system for predicting a disease
WO2014169377A1 (en) 2013-04-17 2014-10-23 Andrew Ka-Ching Wong Aligning and clustering sequence patterns to reveal classificatory functionality of sequences
ES2766860T5 (es) * 2013-05-15 2023-02-23 Bgi Genomics Co Ltd Método para detectar anomalías estructurales cromosómicas y dispositivo para ello
EP3000065A4 (en) 2013-05-23 2017-01-18 Iphenotype LLC Phenotypic integrated social search database and method
CN103336916B (zh) 2013-07-05 2016-04-06 中国科学院数学与系统科学研究院 一种测序序列映射方法及系统
WO2015006643A2 (en) 2013-07-12 2015-01-15 Immuneering Corporation Systems, methods, and environment for automated review of genomic data to identify downregulated and/or upregulated gene expression indicative of a disease or condition
WO2015013191A1 (en) 2013-07-21 2015-01-29 Dana-Farber Cancer Institute, Inc. Methods, systems, apparatus and their optimization for effective clinical analysis and conveying results thereof
EP3025156A4 (en) 2013-07-25 2017-06-14 KBioBox Inc. Method and system for rapid searching of genomic data and uses thereof
US20150073724A1 (en) 2013-07-29 2015-03-12 Agilent Technologies, Inc Method for finding variants from targeted sequencing panels
KR101524562B1 (ko) 2013-08-19 2015-06-02 서울대학교산학협력단 약물 부작용 방지를 위한 개인별 단백질 손상 정보 기반의 약물 선택 방법 및 시스템
WO2015026853A2 (en) 2013-08-19 2015-02-26 Abbott Molecular Inc. Next-generation sequencing libraries
WO2015026953A1 (en) 2013-08-20 2015-02-26 Ohio State Innovation Foundation Methods for predicting prognosis
US9116866B2 (en) 2013-08-21 2015-08-25 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants
US10460830B2 (en) 2013-08-22 2019-10-29 Genomoncology, Llc Computer-based systems and methods for analyzing genomes based on discrete data structures corresponding to genetic variants therein
WO2015031689A1 (en) 2013-08-30 2015-03-05 Personalis, Inc. Methods and systems for genomic analysis
US10395758B2 (en) 2013-08-30 2019-08-27 10X Genomics, Inc. Sequencing methods
US20150066381A1 (en) 2013-09-03 2015-03-05 Seven Bridges Genomics Inc. Genomic pipeline editor with tool localization
KR101493982B1 (ko) 2013-09-26 2015-02-23 대한민국 품종인식 코드화 시스템 및 이를 이용한 코드화 방법
EP2854059A3 (en) 2013-09-27 2015-07-29 Orbicule BVBA Method for storage and communication of personal genomic or medical information
WO2015051275A1 (en) 2013-10-03 2015-04-09 Personalis, Inc. Methods for analyzing genotypes
EP4258269A3 (en) 2013-10-04 2024-01-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20150105270A1 (en) 2013-10-10 2015-04-16 Severe Adverse Event (Sae) Consortium Biomarkers for increased risk of drug-induced liver injury from exome sequencing studies
US10832797B2 (en) 2013-10-18 2020-11-10 Seven Bridges Genomics Inc. Method and system for quantifying sequence alignment
CN105793689B (zh) 2013-10-18 2020-04-17 七桥基因公司 用于将遗传样本基因分型的方法和系统
WO2015058120A1 (en) 2013-10-18 2015-04-23 Seven Bridges Genomics Inc. Methods and systems for aligning sequences in the presence of repeating elements
US10762981B2 (en) 2013-10-22 2020-09-01 Athena Diagnostics, Inc. Pathogenicity scoring system for human clinical genetics
US9547749B2 (en) 2013-10-30 2017-01-17 St. Petersburg State University Visualization, sharing and analysis of large data sets
US20150154375A1 (en) 2013-11-27 2015-06-04 Companion Dx Reference Lab, Llc. Systems and methods for optimizing drug therapies
WO2015085147A1 (en) 2013-12-05 2015-06-11 The Broad Institute Inc. Polymorphic gene typing and somatic change detection using sequencing data
WO2015105771A1 (en) 2014-01-07 2015-07-16 The Regents Of The University Of Michigan Systems and methods for genomic variant analysis
EP3092317B1 (en) 2014-01-10 2021-04-21 Seven Bridges Genomics Inc. Systems and methods for use of known alleles in read mapping
US20150254397A1 (en) 2014-01-11 2015-09-10 Cytognomix Inc Method of Validating mRNA Splciing Mutations in Complete Transcriptomes
EP3095054B1 (en) 2014-01-14 2022-08-31 Fabric Genomics, Inc. Methods and systems for genome analysis
US20160333411A1 (en) 2014-01-17 2016-11-17 Ruthie Harper Methods of weight analysis and uses thereof
WO2015112619A1 (en) 2014-01-22 2015-07-30 Adam Platt Methods and systems for detecting genetic mutations
US9670530B2 (en) 2014-01-30 2017-06-06 Illumina, Inc. Haplotype resolved genome sequencing
US20150228041A1 (en) 2014-02-10 2015-08-13 Cure Forward Corp. Clinical trial recruitment platform driven by molecular profile
AU2015217139B2 (en) 2014-02-13 2018-04-12 Illumina, Inc. Integrated consumer genomic services
WO2015123600A1 (en) 2014-02-13 2015-08-20 The Childrens's Mercy Hospital Method and process for whole genome sequencing for genetic disease diagnosis
GB201402996D0 (en) 2014-02-20 2014-04-09 Vela Operations Pte Ltd Variant analysis in high-throughput sequencing applications
EP3111353A4 (en) 2014-02-26 2017-11-01 Nantomics, LLC Secured mobile genome browsing devices and methods therefor
US20150248522A1 (en) 2014-02-28 2015-09-03 The Board of Trustees of the Leland Stanford Junior, University Method and System for Identification of Disease Causing Variants
AU2015222658B2 (en) 2014-02-28 2021-07-08 Centre For Addiction And Mental Health Compositions and methods for the treatment and prevention of antipsychotic medication-induced weight gain
US20150261913A1 (en) 2014-03-11 2015-09-17 The Board of Trustees of the Leland Stanford, Junior, University Method and System for Identifying Clinical Phenotypes in Whole Genome DNA Sequence Data
WO2015140794A1 (en) 2014-03-20 2015-09-24 Ramot At Tel-Aviv University Ltd. Methods and systems for genome comparison
WO2015146852A1 (ja) 2014-03-24 2015-10-01 株式会社 東芝 基準ゲノムデータを生成する方法、装置及びプログラム、差分ゲノムデータを生成する方法、装置及びプログラム、データを復元する方法、装置及びプログラム
WO2015148776A1 (en) 2014-03-27 2015-10-01 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
JP6198659B2 (ja) 2014-04-03 2017-09-20 株式会社日立ハイテクノロジーズ 配列データ解析装置、ｄｎａ解析システムおよび配列データ解析方法
AU2015249846B2 (en) 2014-04-21 2021-07-22 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
JP6640836B2 (ja) 2014-05-02 2020-02-05 コーニンクレッカ フィリップス エヌ ヴェＫｏｎｉｎｋｌｉｊｋｅ Ｐｈｉｌｉｐｓ Ｎ．Ｖ． ゲノム情報科学サービス
WO2015171457A1 (en) 2014-05-03 2015-11-12 The Regents Of The University Of California Methods of identifying biomarkers associated with or causative of the progression of disease, in particular for use in prognosticating primary open angle glaucoma
GB2541143A (en) 2014-05-05 2017-02-08 Univ Texas Variant annotation, analysis and selection tool
US10216895B2 (en) 2014-05-12 2019-02-26 Roche Molecular Systems, Inc. Rare variant calls in ultra-deep sequencing
GB201408687D0 (en) 2014-05-16 2014-07-02 Univ Leuven Kath Method for predicting a phenotype from a genotype
CA2950596C (en) * 2014-05-30 2023-10-31 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
EP3149640B1 (en) * 2014-05-30 2019-09-04 Sequenom, Inc. Chromosome representation determinations
WO2015191562A1 (en) 2014-06-09 2015-12-17 Revon Systems, Llc Systems and methods for health tracking and management
US20170098053A1 (en) 2014-06-09 2017-04-06 Georgetown University Telegenetics
US20160098519A1 (en) 2014-06-11 2016-04-07 Jorge S. Zwir Systems and methods for scalable unsupervised multisource analysis
US20160314245A1 (en) 2014-06-17 2016-10-27 Genepeeks, Inc. Device, system and method for assessing risk of variant-specific gene dysfunction
US10046177B2 (en) 2014-06-18 2018-08-14 Elekta Ab System and method for automatic treatment planning
CN106536756A (zh) 2014-06-26 2017-03-22 10X基因组学有限公司 核酸序列的分析
US10665328B2 (en) 2014-06-30 2020-05-26 QIAGEN Redwood City, Inc. Methods and systems for interpretation and reporting of sequence-based genetic tests
US9982295B2 (en) 2014-07-18 2018-05-29 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA
KR20160010277A (ko) 2014-07-18 2016-01-27 에스케이텔레콤 주식회사 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법
US20160048608A1 (en) 2014-08-15 2016-02-18 Good Start Genetics, Inc. Systems and methods for genetic analysis
CA2963785A1 (en) 2014-09-05 2016-03-10 Nantomics, Llc Systems and methods for determination of provenance
ES2915399T3 (es) 2014-09-12 2022-06-22 Illumina Cambridge Ltd Detección de expansiones de repetición con datos de secuenciación de lectura corta
WO2016055971A2 (en) 2014-10-10 2016-04-14 Invitae Corporation Methods, systems and processes of de novo assembly of sequencing reads
WO2016061396A1 (en) 2014-10-16 2016-04-21 Counsyl, Inc. Variant caller
AU2015331621B2 (en) 2014-10-17 2021-02-25 Ancestry.Com Dna, Llc Ancestral human genomes
EP3210145A1 (en) 2014-10-21 2017-08-30 Barcelona Supercomputing Center-Centro Nacional de Supercomputación A computational method for the identification of variants in nucleic acid sequences
AU2015336005B2 (en) 2014-10-22 2018-07-26 Baylor College Of Medicine Method to identify genes under positive selection
CN107004068B (zh) 2014-11-25 2021-08-24 皇家飞利浦有限公司 基因组数据的安全传输
KR20170106979A (ko) 2015-01-13 2017-09-22 10엑스 제노믹스, 인크. 구조 변이 및 위상 조정 정보를 시각화하기 위한 시스템 및 방법
NL2014199B1 (en) 2015-01-27 2017-01-06 Genalice B V A computer implemented method for generating a variant call file.
SG11201706087VA (en) 2015-01-30 2017-08-30 Rga Int Corp Devices and methods for diagnostics based on analysis of nucleic acids
EP3051450A1 (en) 2015-02-02 2016-08-03 Applied Maths Method of typing nucleic acid or amino acid sequences based on sequence analysis
MX2017010142A (es) 2015-02-09 2017-12-11 10X Genomics Inc Sistemas y metodos para determinar variacion estructural y ajuste de fases con datos de recuperacion de variantes.
US20160239603A1 (en) 2015-02-18 2016-08-18 Michael James Brown Computer-implemented associations of nucleic and amino acid sequence polymorphisms with phenotypes.
US10734117B2 (en) 2015-03-02 2020-08-04 Strand Life Sciences Private Limited Apparatuses and methods for determining a patient's response to multiple cancer drugs
KR101974769B1 (ko) 2015-03-03 2019-05-02 난토믹스, 엘엘씨 앙상블-기반 연구 추천 시스템 및 방법
JP2018514187A (ja) 2015-03-04 2018-06-07 ベラサイト インコーポレイテッド 発現レベルおよび配列変種情報を用いて疾患の発症または再発のリスクを評価するための方法
US10192026B2 (en) 2015-03-05 2019-01-29 Seven Bridges Genomics Inc. Systems and methods for genomic pattern analysis
CA2980078C (en) 2015-03-16 2024-03-12 Personal Genome Diagnostics Inc. Systems and methods for analyzing nucleic acid
US9940266B2 (en) 2015-03-23 2018-04-10 Edico Genome Corporation Method and system for genomic visualization
CN107533586A (zh) 2015-03-23 2018-01-02 私有通道公司 用于加强生物信息学数据隐私和实现生物信息学数据广泛共享的系统、方法和设备
US20160281166A1 (en) 2015-03-23 2016-09-29 Parabase Genomics, Inc. Methods and systems for screening diseases in subjects
CN116042833A (zh) 2015-03-26 2023-05-02 奎斯特诊断投资股份有限公司 比对和变体测序分析管线
US20160300013A1 (en) 2015-04-10 2016-10-13 Agilent Technologies, Inc. METHOD FOR SIMULTANEOUS DETECTION OF GENOME-WIDE COPY NUMBER CHANGES, cnLOH, INDELS, AND GENE MUTATIONS
WO2016172801A1 (en) 2015-04-29 2016-11-03 The University Of British Columbia Clinical support system and method
AU2016258914A1 (en) 2015-05-01 2017-11-09 Guardant Health, Inc. Diagnostic methods
CA2891830A1 (en) 2015-05-15 2016-11-15 Centre For Addiction And Mental Health Genetic markers for suicide risk and related methods
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
US10229519B2 (en) 2015-05-22 2019-03-12 The University Of British Columbia Methods for the graphical representation of genomic sequence data
US10275567B2 (en) 2015-05-22 2019-04-30 Seven Bridges Genomics Inc. Systems and methods for haplotyping
US10185803B2 (en) 2015-06-15 2019-01-22 Deep Genomics Incorporated Systems and methods for classifying, prioritizing and interpreting genetic variants and therapies using a deep neural network
EP3311317A1 (en) 2015-06-19 2018-04-25 Koninklijke Philips N.V. Efficient clinical trial matching
AU2016284455A1 (en) 2015-06-22 2017-11-23 Myriad Women's Health, Inc. Methods of predicting pathogenicity of genetic sequence variants
AU2016293025A1 (en) 2015-07-13 2017-11-02 Agilent Technologies Belgium Nv System and methodology for the analysis of genomic data obtained from a subject
EP3323067B1 (en) 2015-07-13 2022-07-06 Ancestry.com DNA, LLC Local genetic ethnicity determination system
US12183433B2 (en) 2015-07-29 2024-12-31 Koninklijke Philips N.V. Systems and methods for prioritizing variants of unknown significance
JP6946292B2 (ja) 2015-08-06 2021-10-06 エイアールシー バイオ リミテッド ライアビリティ カンパニー ゲノム分析のためのシステムおよび方法
WO2017042831A2 (en) 2015-09-07 2017-03-16 Isense Solution Private Limited A system and method of measuring productivity and longevity of human beings based on analysis of their genes in a biological and functional context
CN116344071A (zh) 2015-09-10 2023-06-27 豪夫迈·罗氏有限公司 用于整合临床护理的信息学平台
WO2017049214A1 (en) 2015-09-18 2017-03-23 Omicia, Inc. Predicting disease burden from genome variants
WO2017065959A2 (en) 2015-09-25 2017-04-20 Veracyte, Inc. Methods and compositions that utilize transcriptome sequencing data in machine learning-based classification
US20170091382A1 (en) 2015-09-29 2017-03-30 Yotta Biomed, Llc. System and method for automating data generation and data management for a next generation sequencer
GB2543273A (en) 2015-10-12 2017-04-19 Leica Microsystems Cambridge Ltd Obtaining biological information and storing and searching biological information in a database
US20170116379A1 (en) 2015-10-26 2017-04-27 Aetna Inc. Systems and methods for dynamically generated genomic decision support for individualized medical treatment
US20170132362A1 (en) 2015-11-09 2017-05-11 Washington State University Novel machine learning approach for the identification of genomic features associated with epigenetic control regions and transgenerational inheritance of epimutations
HK1258526A1 (zh) 2015-11-10 2019-11-15 Human Longevity, Inc. 基因组、微生物组和代谢组数据可视化合成平台
KR20180124840A (ko) 2015-12-12 2018-11-21 싸이퍼롬, 인코퍼레이티드 컴퓨터로-구현된 집단에 대한 약물 안전성의 평가
KR101693504B1 (ko) 2015-12-28 2017-01-17 (주)신테카바이오 개인 전장 유전체의 유전변이정보를 이용한 질병원인 발굴 시스템
WO2017120556A1 (en) 2016-01-07 2017-07-13 The Children's Mercy Hospital A system for determining diplotypes
US20170199960A1 (en) 2016-01-07 2017-07-13 Seven Bridges Genomics Inc. Systems and methods for adaptive local alignment for graph genomes
US20170213127A1 (en) 2016-01-24 2017-07-27 Matthew Charles Duncan Method and System for Discovering Ancestors using Genomic and Genealogic Data
US10460829B2 (en) 2016-01-26 2019-10-29 Seven Bridges Genomics Inc. Systems and methods for encoding genetic variation for a population
SG11201806812SA (en) 2016-02-12 2018-09-27 Regeneron Pharma Methods and systems for detection of abnormal karyotypes
WO2017172958A1 (en) 2016-03-29 2017-10-05 Regeneron Pharmaceuticals, Inc. Genetic variant-phenotype analysis system and methods of use

Also Published As

Publication number Publication date
EP3414691A1 (en) 2018-12-19
AU2020244451A1 (en) 2020-10-29
IL261216A (en) 2018-10-31
US12071669B2 (en) 2024-08-27
AU2020244451B2 (en) 2022-04-07
US20170233806A1 (en) 2017-08-17
CN109074426A (zh) 2018-12-21
US20250027156A1 (en) 2025-01-23
JP6765433B2 (ja) 2020-10-07
AU2017218149B2 (en) 2020-09-03
HK1259478A1 (zh) 2019-11-29
KR20180116309A (ko) 2018-10-24
CN109074426B (zh) 2022-07-26
KR102465122B1 (ko) 2022-11-09
JP2019512122A (ja) 2019-05-09
KR20210154877A (ko) 2021-12-21
MX2018009823A (es) 2019-02-20
JP7144493B2 (ja) 2022-09-29
IL261216B (en) 2021-12-01
KR102341129B1 (ko) 2021-12-21
JP2021019586A (ja) 2021-02-18
SG11201806812SA (en) 2018-09-27
NZ745249A (en) 2021-07-30
IL287595A (en) 2021-12-01
CN115273970A (zh) 2022-11-01
WO2017139801A1 (en) 2017-08-17
AU2017218149A1 (en) 2018-09-06

Similar Documents

Publication Publication Date Title
US20250027156A1 (en) Methods and systems for detection of abnormal karyotypes
Luquette et al. Identification of somatic mutations in single cell DNA-seq using a spatial model of allelic imbalance
Leonard et al. Graph construction method impacts variation representation and analyses in a bovine super-pangenome
JP2023022220A (ja) 遺伝子の変動の非侵襲的評価のための方法および処理
KR102665592B1 (ko) 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
Magi et al. Read count approach for DNA copy number variants detection
US20190066842A1 (en) A novel algorithm for smn1 and smn2 copy number analysis using coverage depth data from next generation sequencing
CN105814574A (zh) 遗传变异的非侵入性评估的方法和过程
Broman et al. Cleaning genotype data from diversity outbred mice
Hayes et al. A model-based clustering method for genomic structural variant prediction and genotyping using paired-end sequencing data
Xiao et al. An accurate and powerful method for copy number variation detection
Cabrejas-Olalla et al. Genetic predictions of eye and hair colour in the Danish population
Gusev et al. Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population
Alonso et al. CNstream: A method for the identification and genotyping of copy number polymorphisms using Illumina microarrays
Niehus et al. PopDel identifies medium-size deletions jointly in tens of thousands of genomes
Wang et al. Robust detection and genotyping of single feature polymorphisms from gene expression data
You et al. Likelihood ratio test for excess homozygosity at marker loci on X chromosome
Iancu et al. Detection of expression quantitative trait loci in complex mouse crosses: impact and alleviation of data quality and complex population substructure
Wen et al. Cohen’sh for detection of disease association with rare genetic variants
JP2009069911A (ja) 遺伝子関連解析装置及び遺伝子関連解析プログラム
WO2025120153A1 (en) Methylation quantitative trait loci identification
Xia et al. A novel HMM for analyzing chromosomal aberrations in heterogeneous tumor samples
NZ745249B2 (en) Methods and systems for detection of abnormal karyotypes
Papenfuss et al. Bioinformatics Analysis of Sequence Data
Lin et al. HaplotypeCN: Copy Number Haplotype Inference with Hidden Markov Model and Localized

Legal Events

Date Code Title Description
EEER Examination request

Effective date: 20180912

EEER Examination request

Effective date: 20180912

EEER Examination request

Effective date: 20180912

EEER Examination request

Effective date: 20180912

EEER Examination request

Effective date: 20180912

FZDE Discontinued

Effective date: 20240304